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Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds
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SYSNO ASEP 0347460 Document Type J - Journal Article R&D Document Type Journal Article Subsidiary J Článek ve WOS Title Simplified PCR analysis of mutation in the NHEJ1 gene causing Collie eye anomaly in some dog breeds Author(s) Dostál, Jaromír (UZFG-Y)
Horák, Pavel (UZFG-Y) RID
Hrdlicová, Anna (UZFG-Y) RID, ORCID
Stratil, Antonín (UZFG-Y) RID, ORCIDSource Title Czech Journal of Animal Science. - : Czech Academy of Agricultural Sciences - ISSN 1212-1819
Roč. 55, č. 8 (2010), s. 346-350Number of pages 5 s. Language eng - English Country CZ - Czech Republic Keywords CEA ; polymorphism ; indel Subject RIV EB - Genetics ; Molecular Biology R&D Projects 1QS500450578 GA AV ČR - Academy of Sciences of the Czech Republic (AV ČR) CEZ AV0Z50450515 - UZFG-Y (2005-2011) UT WOS 000281109000006 Annotation Collie eye anomaly (CEA) is an inherited eye disease affecting development of the choroids and sclera segregating in several, mostly herding breeds of dog. Phenotypic development of the disease varies greatly in the affected animals. Genetic control of its clinical variation is unknown so far. Affected dogs share a 7.8 kb deletion in intron 4 of the NHEJ1 gene.We report here population studies of 379 dogs (Australian Shepherd, Border Collie, Rough Collie, Smooth Collie, Shetland Sheep Dog, and Nova Scotia Duck Tolling Retriever) from breeders in the Czech Republic. A simple PCR method using a PikoTM Thermal Cycler and unclotted blood samples was employed for the analysis of the NHEJ1 gene. No isolation of DNA from blood samples before PCR was needed. The method is time-saving and gives excellent results. Frequencies of the disease allele in each breed were calculated (0.045, 0.194, 0.797, 0.367, 0.429 and 0.244, respectively). Workplace Institute of Animal Physiology and Genetics Contact Jana Zásmětová, knihovna@iapg.cas.cz, Tel.: 315 639 554 Year of Publishing 2011
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